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In the past two decades we have seen a surge forward in
understanding the genetics and biochemistry underlying many
pediatric orthopaedic disorders. A few projects have even
progressed into the realm of clinical trials that are primarily
aimed at controlling progressive disease. Meanwhile, genomic
technology development has outpaced expectations and is enabling
gene discovery for disorders that were previously intractable with
traditional genetic methods. Included in this latter category are
common disorders that display multigenic inheritance, sporadic
disorders, and very rare conditions that are difficult to
ascertain. Simultaneously, the study of pediatric orthopaedic
disorders has been continuously refined and updated, highlighting a
number of likely genetic conditions that are as yet unsolved.
Molecular Genetics of Pediatric Orthopaedic Disorders updates
researchers and clinicians of new developments of pediatric
orthopaedic genetics. The chapters inform the audience on the
revolution in new genomic methods and the impact this is having on
potential study designs and the potential to discover genetic
causes of many unsolved orthopaedic conditions. Recent examples
have been included of pediatric orthopaedic conditions, both rare
and common, that are being solved with these new methods. The book
also educates pediatric orthopedic clinicians and geneticists on
our understanding of the biology of "classic" genetic diseases that
were derived from prior genetic studies. Chapters include biobanks
and strategies for studying very rare disorders, genes and pathways
causing primordial dwarfism, and notch signaling in congenital
scoliosis, and more.
In the past two decades we have seen a surge forward in
understanding the genetics and biochemistry underlying many
pediatric orthopaedic disorders. A few projects have even
progressed into the realm of clinical trials that are primarily
aimed at controlling progressive disease. Meanwhile, genomic
technology development has outpaced expectations and is enabling
gene discovery for disorders that were previously intractable with
traditional genetic methods. Included in this latter category are
common disorders that display multigenic inheritance, sporadic
disorders, and very rare conditions that are difficult to
ascertain. Simultaneously, the study of pediatric orthopaedic
disorders has been continuously refined and updated, highlighting a
number of likely genetic conditions that are as yet unsolved.
Molecular Genetics of Pediatric Orthopaedic Disorders updates
researchers and clinicians of new developments of pediatric
orthopaedic genetics. The chapters inform the audience on the
revolution in new genomic methods and the impact this is having on
potential study designs and the potential to discover genetic
causes of many unsolved orthopaedic conditions. Recent examples
have been included of pediatric orthopaedic conditions, both rare
and common, that are being solved with these new methods. The book
also educates pediatric orthopedic clinicians and geneticists on
our understanding of the biology of "classic" genetic diseases that
were derived from prior genetic studies. Chapters include biobanks
and strategies for studying very rare disorders, genes and pathways
causing primordial dwarfism, and notch signaling in congenital
scoliosis, and more.
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